ClinVar Miner

Variants studied for Severe early-childhood-onset retinal dystrophy

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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign established risk allele other not provided total
212 241 142 14 41 2 1 2 580

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign established risk allele other not provided total
ABCA4 191 223 58 6 19 2 1 2 432
CNGB3 1 1 76 8 20 0 0 0 106
ABCA4, LOC126805793 16 13 2 0 2 0 0 0 28
ABCA4, LOC126805794 4 2 4 0 0 0 0 0 10
ABCA4, LOC112590828, LOC126805793, LOC126805794 0 1 0 0 0 0 0 0 1
ABCB4 0 0 1 0 0 0 0 0 1
MFSD8 0 1 0 0 0 0 0 0 1
RHO 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 64
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign established risk allele other not provided total
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 57 56 15 0 0 0 0 0 128
Illumina Laboratory Services, Illumina 0 0 75 8 20 0 0 0 103
Institute of Medical Molecular Genetics, University of Zurich 0 76 0 0 0 0 0 0 76
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 53 16 2 0 2 0 0 0 73
Mendelics 29 6 8 4 2 0 0 0 49
NIHR Bioresource Rare Diseases, University of Cambridge 7 35 0 2 0 0 0 0 44
Ocular Genomics Institute, Massachusetts Eye and Ear 16 8 7 0 0 0 0 0 31
SingHealth Duke-NUS Institute of Precision Medicine 5 24 0 0 0 0 0 0 29
Institute of Human Genetics, University of Leipzig Medical Center 17 6 3 0 0 2 0 0 28
OMIM 24 0 1 0 0 0 0 0 25
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 20 3 2 0 0 0 0 0 25
3billion, Medical Genetics 13 10 1 0 0 0 0 0 24
DBGen Ocular Genomics 7 8 8 0 0 0 0 0 23
Genome-Nilou Lab 3 0 0 0 17 0 0 0 20
MGZ Medical Genetics Center 9 6 2 0 0 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 5 7 3 0 0 0 0 0 15
Molecular Genetics, Royal Melbourne Hospital 6 3 1 0 0 0 0 0 10
Neuberg Centre For Genomic Medicine, NCGM 5 2 1 0 0 0 0 0 8
Department of Ophthalmology and Visual Sciences Kyoto University 6 0 0 0 0 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 5 1 0 0 0 0 0 6
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 3 0 0 0 0 0 0 6
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 5 1 0 0 0 0 0 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 1 1 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 0 0 0 4
Genetics and Molecular Pathology, SA Pathology 3 1 0 0 0 0 0 0 4
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 2 2 0 0 0 0 0 0 4
Baylor Genetics 2 1 0 0 0 0 0 0 3
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals 1 1 1 0 0 0 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 1 2 0 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 1 0 0 0 0 3
Arcensus 0 2 1 0 0 0 0 0 3
Department of Genetics, Suzhou Beikang Medical Laboratory 0 3 0 0 0 0 0 0 3
Centogene AG - the Rare Disease Company 0 0 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 0 0 2
UCLA Clinical Genomics Center, UCLA 2 0 0 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 1 1 0 0 0 0 0 0 2
Reproductive Health Research and Development, BGI Genomics 1 0 1 0 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 2 0 0 0 0 0 0 0 2
Wuhan Primbio Medical Laboratory 1 0 1 0 0 0 0 0 2
Division of Molecular and Cellular Biology, National Hospital Organization Tokyo Medical Center 1 0 1 0 0 0 0 0 2
MVZ Medizinische Genetik Mainz 1 0 1 0 0 0 0 0 2
Department of Medical Genetics, Erciyes University Faculty of Medicine 0 2 0 0 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 0 0 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 1 0 0 0 0 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 0 1 0 1
Strand Center for Genomics and Personalized Medicine, Strand Life Sciences Pvt Ltd 0 0 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 0 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 0 0 1
Servicio Extremeño de Salud, Hospital de Mérida 1 0 0 0 0 0 0 0 1
Human Molecular Genetics Laboratory, Federal University of Parana 0 1 0 0 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 1 0 0 0 0 0 0 1
Core Molecular Diagnostic Lab, McGill University Health Centre 1 0 0 0 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 0 0 0 0 0 1
Genetic Diagnostics Department, Viafet Genomics Laboratory 1 0 0 0 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 0 0 1
Biswas-Fiss Lab at the Ammon Pinizzotto Biopharmaceutical Innovation Center, University of Delaware 0 1 0 0 0 0 0 0 1
Clinical Genetics Laboratory, Karadeniz Technical University 0 1 0 0 0 0 0 0 1

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